Annotation Detail
Information
- Associated Genes
- KCNH2
- Associated Variants
-
KCNH2 p.Tyr616Cys (p.Y616C)
(
ENST00000262186.10,
ENST00000330883.9,
ENST00000713701.1,
ENST00000713710.1 )
KCNH2 p.Tyr616Cys (p.Y616C) ( ENST00000262186.10, ENST00000330883.9, ENST00000713701.1, ENST00000713710.1 ) - Associated Disease
- Congenital long QT syndrome
- Source Database
- ClinVar
- Description
- NM_000238.4(KCNH2):c.1847A>G (p.Tyr616Cys) AND Congenital long QT syndrome
- ClinVar Allele ID
- 78191
- ClinVar RefSeq Alternation Syntax
- NM_000238.4:c.1847A>G
- ClinVar RefSeq Alternation Syntax
- NM_172056.3:c.1847A>G
- ClinVar RefSeq Alternation Syntax
- NM_001406755.1:c.1670A>G
- ClinVar RefSeq Alternation Syntax
- NM_001406753.1:c.1559A>G
- ClinVar RefSeq Alternation Syntax
- NM_001204798.2:c.827A>G
- ClinVar RefSeq Alternation Syntax
- NM_001406757.1:c.1547A>G
- ClinVar RefSeq Alternation Syntax
- NM_172057.3:c.827A>G
- ClinVar RefSeq Alternation Syntax
- NM_001406756.1:c.1559A>G
- Clinical Significance Description
- not provided
- Clinical Significance Review Status
- no assertion provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000058013
- ClinVar Disease
- Congenital long QT syndrome
- Observed Origin Sample
- germline
Drugs